Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV001808898 | SCV002059143 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 20 | 2022-01-03 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.867, 3CNET: 0.986, PP3_P). A missense variant is a common mechanism associated with Deafness (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |